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Unlocking Genomic Frontiers: ONT’s Long-Read Sequencing Breakthroughs

Tonight I started watching a longer session from Oxford Nanopore Technologies (ONT) summer programming. “The era of complete genomes, at any scale” was the title of a session Cora Vaher gave. They described how long-read sequencing with ONT has changed sequencing. Vaher stated that “the era of full genomes is coming” because there are many […]
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Personalized Medicine for Breast Cancer in the Caribbean: CariGenetics Pilot Study

I wanted to revisit Carika Weldon’s London Calling 2024 session tonight. Weldon founded CariGenetics in Bermuda and has presented in other London Calling sessions. The title of this session was “Towards personalised medicine for breast cancer in the Caribbean: a pilot study.” I wanted to watch this one since I heard about it from the […]
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Improved Plant Genome Assembly with Ultra-Long Nanopore Sequencing

Bosheng Li from the Institute of Advanced Agricultural Sciences of Peking University in China presented at London Calling 2024. The session’s title was “Plant T2T genome assembly using ultra-long and adaptive nanopore sequencing.” They spoke about the importance of ultra-long reads. These reads produce N50 length >100 kb. These are crucial in the assembly of […]
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Ultra-Rapid, Long-Read Whole-Genome Sequencing with BadgerSeq

Stephen Meyn from the Center for Human Genomics and Precision Medicine at the University of Wisconsin-Madison presented at London Calling 2024. The session title was “BadgerSeq: a deecentralized model for ultra-rapid, long-read, whole-genome sequencing.” Meyn spoke about rare genetic disorders in the NICU and the importance of diagnosis. Meyn emphasized the need for speed and […]
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Long-Read Sequencing and Methylation Pattern Characterization in 1000 Genomes Project

Sophia Gibson from the University of Washington presented at London Calling 2024 on “Haplotype-resolved repeat expansions & methylation patterns in 1000 Genome Project data.” Gibson noted that clinical genetic testing typically requires multiple tests and clinic visits… and is diagnostic in fewer than 50% of cases. This is described as the “diagnostic odyssey.” Long-read sequencing […]
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Enhancing Rare Disease Understanding with Combined RNAseq and Long-read Sequencing

Tjakko van Ham from the Erasmus University Medical Center in the Netherlands presented at London Calling 2024. The session was titled “Combined RNAseq and long-read sequencing for unsolved cases.” They began by describing how, in a diagnostic lab, exome sequencing is typically used. However, copy number variants, sequence variants, and non-coding variants may be challenging […]
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Assembling a T2T Gyr Cattle Genome with Oxford Nanopore Reads

Temitayo A. Olagunju from the University of Idaho presented at London Calling 2024 on “Assembling a T2T cattle genome with Oxford Nanopore reads.”The breed of cattle they focused on is the gyr, with a characteristic hum on the back and important for milk production. They are often intercrossed/interbred with other bos cattle for their features […]
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From Plant to Publication: Empowering Students with Data Literacy Skills

Katharina Wolff from TU Braunschweig, Germany, presented a five-minute session at London Calling 2024 titled “Empowering scientists with data literacy skills in long-read genomic sequencing.” Wolff spoke about the variety of plants around us and empowering students to learn about plant diversity. They wanted to address the increasing availability of data and lack of data […]
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High-Quality Genome Assembly Tools by Oxford Nanopore

We often use Oxford nanopore reads for de novo assembly of genomes and plasmids. Sean Mckenzie, Associate Director of Genomic Applications Bioinformatics with Oxford Nanopore Technologies, provided an update on assembly performance. They described de novo assembly as “the process of reconstructing an organism’s genome sequence from a set of genomic sequencing reads.” There are […]
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Uncovering ‘Dark’ Genomic Regions with Nanopore Sequencing – Mayo Clinic Insights

Devin Oglesbee from the Mayo Clinic spoke about “Nanopore sequencing medically relevant ‘dark’ genomic regions” at London Calling 2024. The Mayo Clinic has several locations and is interested in learning about dark/camouflaged genomic regions that are “not being met in the clinical laboratory.” Oglesbee spoke about the difference between “dark by depth” and “dark by […]
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